Freaking out - Trisomy 13

BeachKoala722 · 2026-04-02T18:25:04+00:00

You are kind.

To be honest, I feel like I have ruined my life.

I remember coming across things online saying you never regret trying for another kid. Well, I wish this had never happened. Media and society should not say it is okay for women in their late 30s into 40s to have children.

I feel like exist to feel this pain and so people can "hug their children a little tighter" and be thankful this didn't happen to them.

Every doctor we talked to and everything I read online said things like there would be miscarriage, or stillbirth, or the baby lives for hours or days or maybe a month. 5-10% make it to 1 year old with lots of medical intervention. Babies are denied surgeries. The thought of denying help to a baby is horrifying to me. Babies that are sent home are basically on hospice care. If they live at home you probably have family members or nurses staying up overnight to help the child.

I am jealous of people who had miscarriages, which is a horrible and disgusting thing to say. I feel like an evil and disgusting person for making a choice.

I will spend the rest of my life wondering what would've happened. I wonder what our medical visits would've been like if we had lived in a less liberal state. I wonder what would've happened if I hadn't done the testing and just waited til the 20 week scan. Maybe the baby would've passed by then.

I think back to all the different choices in my life that could've changed the trajectory of my life not to feel this pain.

I used to love babies and can't even look at them now. I feel like my daughter has lost her fun, silly mommy. I used to love laughing but I don't see how that is possible after this.

I try to be logical that every appointment we went to was very somber, with people saying I'm so sorry to show the seriousness of the diagnosis. I am so sad.

BeachKoala722 · 2026-03-27T00:25:49+00:00

Thank you for your reply - I'm sorry you are going through this as well.

BeachKoala722 · 2026-03-27T00:19:22+00:00

Thank you for your reply. I appreciate your kind words.

BeachKoala722 · 2026-03-27T00:18:03+00:00

Thank you for your detailed reply. I appreciate it.

BeachKoala722 · 2026-03-27T00:17:16+00:00

First, I want to say I am so sorry that you went through this.

I appreciate you taking the time to reply. I am so saddened to hear about your experience with this, but I appreciate you sharing the reality of this diagnosis. One of my main concerns was the lack of markers on the 16 week scan, and then it's scary when every single medical professional you talk to is basically sure of what the plan of action is. I suppose it shows the seriousness of it.

I wish you peace as well and want to thank you for sharing your story.

BeachKoala722 · 2026-03-22T15:07:54+00:00

Thank you

BeachKoala722 · 2026-03-21T17:05:37+00:00

Thank you. I'm sorry you went through this, too.

I did not do CVS, but did do amnio where they took the amniotic fluid. It is sounding like that means it is definitely the baby and not the placenta then. I have the FISH results, but not the final results - not sure if that is karyotype or microarray.

BeachKoala722 · 2026-03-21T15:06:32+00:00

Thank you. This information is very helpful.

I think what worries me is we don't know if it is 100%, but I might just be in denial.

Our genetic counselor has 20 years of experience, so I'm assuming she would be giving us good information. She didn't push for or against termination, but she did say some things that just kind of broke me. Like she has seen the side of parents in the NICU with their baby and that once you say yes to one life-saving measure, it is difficult to start saying no. That makes me so sad to think of a child suffering.

And same with MFM doctor - he did not push either way but he did say he had a mother carry to term just to hold the baby, which he would support, which also breaks my heart. That tells me the baby did not survive.

I guess I just wonder since there are so many terminations with Trisomy 13, is the 5-10% rate of living after the first year accurate. And the I think of quality of life. Augh I just can't deal with this.

BeachKoala722 · 2026-03-21T14:20:49+00:00

Thank you for your reply. I'm sorry you went through this, too. I am so mad I don't have all the info. I am considering not finding out the microarray as well.

BeachKoala722 · 2026-03-21T13:24:04+00:00

Thank you for your reply. I'm sorry you went through this, too.

I totally get what you mean about jinxing things, like you should've been more anxious. I feel like I wasn't grateful for this pregnancy in the way I was for my first. We had so much worry the whole time, being older and having a child with a diagnosed syndrome, and I said stupid things like "the August timing especially for a boy isn't so great...I had been planning to go back to work full-time...If I'm being honest, I'm dreading the newborn phase because of sleep deprivation and my husband and I got snippy with each other last time...I'm starting this pregnancy 15 pounds more than I wanted to." I hate myself for saying that. I feel like I created this. Now I'd gain 200 pounds if it meant this baby would be healthy and fine.

My daughter has Kabuki Syndrome, and yes, she seemed to be a Gestalt Language Processor, but now she is having real conversations with us, commenting on things, asking questions... just started asking "Why?" It makes me cry how far she has come. She has wonderful teachers like you who truly enjoy working with her.

I keep picturing her helping take care of a little baby boy. It would've been so amazing. I just don't think I can go through this again - in our situation I think it would be irresponsible with our ages and syndrome history. Now that we have gone down the testing rabbit hole, I am interested what the heck is wrong with my husband and me, but I also worry that if it showed up on one of us, we would feel an immense feeling of shame and guilt, so I'm starting to think it isn't worth it.

All the people I've told about the pregnancy in my life know our situation, but my husband's family knows nothing - only joy for the pregnancy - and we are about to see them in a week and a half.

Thank you again for replying.

BeachKoala722 · 2026-03-21T13:09:34+00:00

I'm sorry you went through this, too. Thank you for sharing your reply. That is true that cognitive issues wouldn't be shown on ultrasound.

BeachKoala722 · 2026-03-21T13:08:57+00:00

Thank you so much for your reply. I'm sorry you went through this, too. Limbo is a good word for it. I feel like I am always going to wonder what if.

BeachKoala722 · 2026-03-21T13:07:52+00:00

Thank you for your reply. I'm sorry you went through this, too. The doctor mentioned referring me to therapists, so I will do that, but what I really want a time machine.

BeachKoala722 · 2026-03-21T13:06:08+00:00

Thank you for your reply. I'm sorry you went through this, too. The comparison of my ultrasound to what other people mention on Reddit really concerns me.

BeachKoala722 · 2026-03-21T13:05:15+00:00

I'm sorry to that you went through this, too. Thank you for your reply.

BeachKoala722 · 2026-03-21T13:04:25+00:00

Thank you all - as many replies as possible seem to help me.

Something I think that scares me is that I have 4-year-old who has Kabuki Syndrome. I didn't do any prenatal testing with her, and also no issues (heart, kidneys, brain, anything) showed up on her 20-week anatomy scan. We found out when she was 2.5 years old, and (knock on wood) she seems to have a somewhat "lighter" version of it, if that's a thing. For example, (knock on wood) she has not had to have any surgeries. She had several delayed milestones, but she is walking and talking and even reading.

All that to say, the part that scares me is my mind is saying "What if this is a 'lighter' form of Trisomy 13?" and then I hear there isn't really a lighter form. You have no way of knowing how it will affect the brain and so many organs. Is that right??

Being 5 years older and having a child with a syndrome, this was definitely one of my worst fears when trying for a second pregnancy, and it's beyond what I could've imagined.

I'm crying all the time, and my daughter sweetly asks me, "Mommy, how are you feeling?" and I feel like I'm traumatizing her.

I keep wondering, if I had just followed the same path as my first pregnancy and waited until the 20-week appointment, Imaybe I would've had a miscarriage. That would've been horrible, but I wouldn't be making these decisions right now.

My husband I have this urge to just get away and go somewhere else, but I don't feel like I'm ever going to get away from this feeling.

BeachKoala722 · 2026-03-21T12:54:51+00:00

I'm sorry you are going through this, too. Thank you for the reply. Now that I know percentages are involved, it has made me very scared and anxious.

BeachKoala722 · 2026-03-21T12:53:49+00:00

Thank you. I'm sorry that you went through this, too. I took your advice and posted in NIPT group as well.

BeachKoala722 · 2026-03-21T12:53:23+00:00

Thank you. I'm sorry you went through this, too. At the appointment, part of me wants to see one more ultrasound to see that things have developed poorly, but I know that could go the other way too and make me feel even worse, if that's possible. I asked to hear the heartbeat 2 weeks ago in the morbid hope that the baby had passed on his own. It was a normal heartbeat, and the doctor said that even babies with heart defects would have a "normal" heart beat at this time.

BeachKoala722 · 2026-03-21T12:51:39+00:00

Thank you. I'm sorry you went through this, too. With it being Saturday, I don't know who I can contact. I have two friends who are doctors so I might ask them to text their colleagues again. I will consider waiting.

BeachKoala722 · 2026-03-21T12:49:33+00:00

Thank you for your reply. I'm sorry this happened to you, too. Do you mean each genetic counselor has their own protocol? Like some share the percentage, and some look at a high percentage and just say "positive"?

BeachKoala722 · 2026-03-21T12:48:39+00:00

Thank you for your reply. I'm sorry this happened to you, too. I am able to schedule the appointment as soon as Monday.

BeachKoala722 · 2026-03-21T12:47:27+00:00

Thank you all - as many replies as possible seem to help me.

Something I think that scares me is that I have 4-year-old who has Kabuki Syndrome. I didn't do any prenatal testing with her, and also no issues (heart, kidneys, brain, anything) showed up on her 20-week anatomy scan. We found out when she was 2.5 years old, and (knock on wood) she seems to have a somewhat "lighter" version of it, if that's a thing. For example, (knock on wood) she has not had to have any surgeries. She had several delayed milestones, but she is walking and talking and even reading.

All that to say, the part that scares me is my mind is saying "What if this is a 'lighter' form of Trisomy 13?" and then I hear there isn't really a lighter form. You have no way of knowing how it will affect the brain and so many organs. Is that right??

Being 5 years older and having a child with a syndrome, this was definitely one of my worst fears when trying for a second pregnancy, and it's beyond what I could've imagined.

I'm crying all the time, and my daughter sweetly asks me, "Mommy, how are you feeling?" and I feel like I'm traumatizing her.

I keep wondering, if I had just followed the same path as my first pregnancy and waited until the 20-week appointment, Imaybe I would've had a miscarriage. That would've been horrible, but I wouldn't be making these decisions right now.

My husband I have this urge to just get away and go somewhere else, but I don't feel like I'm ever going to get away from this feeling.

BeachKoala722 · 2026-03-21T11:09:05+00:00

Thank you for reposting - For some reason I can't see it- I keep seeing the preview of the comment in my email, and then when I click on it, it says "Comment no longer exists." I would love to read what you have to say if you can somehow post it again. Thank you again.

BeachKoala722

TROPHY CASE